A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv14n27



Internal ID22766743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27445496..27618848hg38UCSC Ensembl
chr1:27772009..27945359hg19UCSC Ensembl
chr1:27644596..27817946hg18UCSC Ensembl
chr1:27456151..27629501hg17UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg38173353
hg19173351
hg18173351
hg17173351
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv460906, nsv460895
Samples1780854103_A, HGDP00861
Known GenesAHDC1, FGR, WASF2
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)dgv14n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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